Incidental Mutation 'R7595:Tmem132a'
| ID |
587698 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem132a
|
| Ensembl Gene |
ENSMUSG00000024736 |
| Gene Name |
transmembrane protein 132A |
| Synonyms |
6720481D13Rik, Hspa5bp1 |
| MMRRC Submission |
045640-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7595 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
10835186-10847304 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 10835569 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 987
(A987V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025645
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025645]
[ENSMUST00000025646]
[ENSMUST00000120524]
|
| AlphaFold |
Q922P8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025645
AA Change: A987V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000025645
Gene: ENSMUSG00000024736
AA Change: A987V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
Pfam:TMEM132D_N
|
44 |
167 |
1.6e-35 |
PFAM |
|
low complexity region
|
206 |
223 |
N/A |
INTRINSIC |
|
Pfam:TMEM132
|
403 |
745 |
4.1e-108 |
PFAM |
|
low complexity region
|
759 |
776 |
N/A |
INTRINSIC |
|
Pfam:TMEM132D_C
|
809 |
897 |
1.5e-31 |
PFAM |
|
low complexity region
|
906 |
923 |
N/A |
INTRINSIC |
|
low complexity region
|
932 |
944 |
N/A |
INTRINSIC |
|
low complexity region
|
960 |
976 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025646
|
| SMART Domains |
Protein: ENSMUSP00000025646
Gene: ENSMUSG00000024737
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
37 |
N/A |
INTRINSIC |
|
Pfam:MFS_1
|
38 |
508 |
3.4e-10 |
PFAM |
|
Pfam:PTR2
|
101 |
519 |
3.2e-79 |
PFAM |
|
transmembrane domain
|
538 |
557 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120524
|
| SMART Domains |
Protein: ENSMUSP00000113696
Gene: ENSMUSG00000024736
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
206 |
223 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1023 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (44/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is highly similar to the rat Grp78-binding protein (GBP). Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930516K23Rik |
T |
C |
7: 103,708,470 (GRCm39) |
E113G |
probably damaging |
Het |
| Adamts16 |
A |
G |
13: 70,878,234 (GRCm39) |
F1177S |
probably damaging |
Het |
| Alox12 |
T |
A |
11: 70,133,230 (GRCm39) |
E658V |
probably damaging |
Het |
| Anxa6 |
C |
A |
11: 54,875,911 (GRCm39) |
V591L |
probably benign |
Het |
| Atp6ap1l |
A |
T |
13: 91,039,135 (GRCm39) |
S141T |
probably damaging |
Het |
| Bcar1 |
A |
C |
8: 112,447,625 (GRCm39) |
N117K |
probably benign |
Het |
| Cdh22 |
A |
G |
2: 164,954,383 (GRCm39) |
S713P |
probably benign |
Het |
| Cideb |
T |
C |
14: 55,992,261 (GRCm39) |
D144G |
probably damaging |
Het |
| Coch |
T |
A |
12: 51,645,016 (GRCm39) |
V190D |
probably damaging |
Het |
| Cyp4a12a |
C |
A |
4: 115,189,089 (GRCm39) |
L473M |
probably damaging |
Het |
| Dennd1c |
A |
C |
17: 57,378,633 (GRCm39) |
L331R |
probably damaging |
Het |
| Dthd1 |
A |
G |
5: 62,976,058 (GRCm39) |
D244G |
probably benign |
Het |
| Dytn |
T |
C |
1: 63,698,161 (GRCm39) |
E282G |
probably damaging |
Het |
| Eml4 |
A |
G |
17: 83,763,513 (GRCm39) |
Q576R |
probably benign |
Het |
| Fa2h |
T |
A |
8: 112,082,122 (GRCm39) |
I175F |
probably benign |
Het |
| Fv1 |
A |
G |
4: 147,954,627 (GRCm39) |
T398A |
possibly damaging |
Het |
| Ggh |
C |
G |
4: 20,049,833 (GRCm39) |
S88C |
probably damaging |
Het |
| Gm5592 |
A |
G |
7: 40,935,867 (GRCm39) |
D123G |
probably damaging |
Het |
| Golph3l |
A |
G |
3: 95,517,094 (GRCm39) |
T201A |
probably benign |
Het |
| Ikbip |
A |
G |
10: 90,932,447 (GRCm39) |
S364G |
probably benign |
Het |
| Kcnc3 |
G |
A |
7: 44,240,893 (GRCm39) |
R195H |
probably damaging |
Het |
| Kdm5b |
T |
A |
1: 134,536,704 (GRCm39) |
D641E |
probably benign |
Het |
| Kif26a |
C |
T |
12: 112,145,759 (GRCm39) |
P1757S |
probably benign |
Het |
| Klf14 |
T |
C |
6: 30,935,475 (GRCm39) |
K53R |
probably benign |
Het |
| Klk1b4 |
A |
G |
7: 43,860,132 (GRCm39) |
D82G |
probably benign |
Het |
| Ly75 |
A |
G |
2: 60,124,171 (GRCm39) |
F1702S |
probably benign |
Het |
| Mfsd4b1 |
A |
T |
10: 39,879,221 (GRCm39) |
Y225* |
probably null |
Het |
| Or8g20 |
A |
C |
9: 39,395,611 (GRCm39) |
F313V |
probably benign |
Het |
| Pcsk4 |
T |
A |
10: 80,157,935 (GRCm39) |
D601V |
possibly damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,358,917 (GRCm39) |
D375E |
probably damaging |
Het |
| Primpol |
A |
G |
8: 47,063,650 (GRCm39) |
L2S |
probably benign |
Het |
| Ralgapb |
G |
A |
2: 158,268,085 (GRCm39) |
V63I |
possibly damaging |
Het |
| Rptor |
T |
A |
11: 119,634,779 (GRCm39) |
N198K |
possibly damaging |
Het |
| Samd5 |
T |
C |
10: 9,504,738 (GRCm39) |
N172S |
probably benign |
Het |
| Sorbs1 |
A |
T |
19: 40,303,097 (GRCm39) |
H542Q |
probably damaging |
Het |
| Spopfm1 |
A |
G |
3: 94,173,985 (GRCm39) |
E327G |
probably benign |
Het |
| Spopfm3 |
A |
G |
3: 94,105,724 (GRCm39) |
D14G |
probably benign |
Het |
| Srgn |
T |
A |
10: 62,343,785 (GRCm39) |
|
probably benign |
Het |
| Taar6 |
C |
T |
10: 23,860,968 (GRCm39) |
V193I |
probably benign |
Het |
| Trank1 |
T |
C |
9: 111,195,059 (GRCm39) |
Y1028H |
probably damaging |
Het |
| Ttc21a |
T |
C |
9: 119,787,135 (GRCm39) |
L714P |
probably benign |
Het |
| Wdfy4 |
C |
T |
14: 32,696,111 (GRCm39) |
|
probably null |
Het |
| Zswim9 |
T |
C |
7: 12,994,998 (GRCm39) |
D386G |
probably benign |
Het |
| Zwilch |
A |
G |
9: 64,056,546 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Tmem132a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01401:Tmem132a
|
APN |
19 |
10,838,888 (GRCm39) |
splice site |
probably benign |
|
|
IGL02508:Tmem132a
|
APN |
19 |
10,835,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0514:Tmem132a
|
UTSW |
19 |
10,836,355 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0918:Tmem132a
|
UTSW |
19 |
10,835,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1160:Tmem132a
|
UTSW |
19 |
10,835,938 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1205:Tmem132a
|
UTSW |
19 |
10,836,448 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1619:Tmem132a
|
UTSW |
19 |
10,839,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1777:Tmem132a
|
UTSW |
19 |
10,835,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1815:Tmem132a
|
UTSW |
19 |
10,838,931 (GRCm39) |
nonsense |
probably null |
|
|
R1869:Tmem132a
|
UTSW |
19 |
10,836,052 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1888:Tmem132a
|
UTSW |
19 |
10,840,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1888:Tmem132a
|
UTSW |
19 |
10,840,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2133:Tmem132a
|
UTSW |
19 |
10,841,430 (GRCm39) |
missense |
probably benign |
0.26 |
|
R2441:Tmem132a
|
UTSW |
19 |
10,837,501 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2570:Tmem132a
|
UTSW |
19 |
10,837,106 (GRCm39) |
missense |
probably null |
1.00 |
|
R3157:Tmem132a
|
UTSW |
19 |
10,836,901 (GRCm39) |
nonsense |
probably null |
|
|
R3159:Tmem132a
|
UTSW |
19 |
10,836,901 (GRCm39) |
nonsense |
probably null |
|
|
R4152:Tmem132a
|
UTSW |
19 |
10,836,427 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4281:Tmem132a
|
UTSW |
19 |
10,839,090 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4547:Tmem132a
|
UTSW |
19 |
10,837,564 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4793:Tmem132a
|
UTSW |
19 |
10,842,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4947:Tmem132a
|
UTSW |
19 |
10,844,298 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4998:Tmem132a
|
UTSW |
19 |
10,836,305 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5226:Tmem132a
|
UTSW |
19 |
10,844,508 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5323:Tmem132a
|
UTSW |
19 |
10,841,371 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6659:Tmem132a
|
UTSW |
19 |
10,837,685 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6814:Tmem132a
|
UTSW |
19 |
10,840,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6872:Tmem132a
|
UTSW |
19 |
10,840,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7205:Tmem132a
|
UTSW |
19 |
10,844,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7383:Tmem132a
|
UTSW |
19 |
10,844,358 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7505:Tmem132a
|
UTSW |
19 |
10,836,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7513:Tmem132a
|
UTSW |
19 |
10,837,492 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8327:Tmem132a
|
UTSW |
19 |
10,836,311 (GRCm39) |
missense |
probably benign |
0.45 |
|
R8442:Tmem132a
|
UTSW |
19 |
10,835,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8550:Tmem132a
|
UTSW |
19 |
10,837,745 (GRCm39) |
missense |
probably benign |
|
|
R8905:Tmem132a
|
UTSW |
19 |
10,842,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9025:Tmem132a
|
UTSW |
19 |
10,837,525 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9032:Tmem132a
|
UTSW |
19 |
10,843,835 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9085:Tmem132a
|
UTSW |
19 |
10,843,835 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9095:Tmem132a
|
UTSW |
19 |
10,844,412 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9563:Tmem132a
|
UTSW |
19 |
10,838,960 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9744:Tmem132a
|
UTSW |
19 |
10,840,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9774:Tmem132a
|
UTSW |
19 |
10,842,904 (GRCm39) |
nonsense |
probably null |
|
|
Z1088:Tmem132a
|
UTSW |
19 |
10,836,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGACGATTAGCCAGCGATCC -3'
(R):5'- GCACCAATCAGGAGGAACTG -3'
Sequencing Primer
(F):5'- ATTAGCCAGCGATCCCATTGG -3'
(R):5'- AGCTGGACCGATGCTCTTC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation